BEST2

From Wikipedia, the free encyclopedia

Bestrophin 2

Identifiers

BEST2; FLJ20132; VMD2L1

External IDs

OMIM: 607335 MGI: 2387588 HomoloGene: 41187

Gene ontology
Molecular Function:	• molecular_function • ion channel activity • chloride channel activity • calcium ion binding • chloride ion binding
Cellular Component:	• membrane • integral to membrane
Biological Process:	• ion transport • biological_process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_017682 (mRNA)
NP_060152 (protein)

NM_145388 (mRNA)
NP_663363 (protein)

Location

Chr 19: 12.72 - 12.73 Mb

Chr 8: 87.9 - 87.9 Mb

Pubmed search

[1]

[2]

Bestrophin 2, also known as BEST2, is a human gene.^[1]

This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon.^[1]

[edit] References

^ ^a ^b Entrez Gene: BEST2 bestrophin 2.

[edit] Further reading

Pifferi S, Pascarella G, Boccaccio A, et al. (2006). "Bestrophin-2 is a candidate calcium-activated chloride channel involved in olfactory transduction.". Proc. Natl. Acad. Sci. U.S.A. 103 (34): 12929-34. doi:10.1073/pnas.0604505103. PMID 16912113.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40-5. doi:10.1038/ng1285. PMID 14702039.
Tsunenari T, Sun H, Williams J, et al. (2003). "Structure-function analysis of the bestrophin family of anion channels.". J. Biol. Chem. 278 (42): 41114-25. doi:10.1074/jbc.M306150200. PMID 12907679.
Stöhr H, Marquardt A, Nanda I, et al. (2002). "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.". Eur. J. Hum. Genet. 10 (4): 281-4. doi:10.1038/sj.ejhg.5200796. PMID 12032738.
Sun H, Tsunenari T, Yau KW, Nathans J (2002). "The vitelliform macular dystrophy protein defines a new family of chloride channels.". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 4008-13. doi:10.1073/pnas.052692999. PMID 11904445.
Marquardt A, Stöhr H, Passmore LA, et al. (1998). "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).". Hum. Mol. Genet. 7 (9): 1517-25. PMID 9700209.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149-56. PMID 9373149.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171-4. PMID 8125298.